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  3. CEBPE
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Phagocyte Defects

Gene: CEBPE

Green List (high evidence)
CEBPE (CCAAT/enhancer binding protein epsilon)
EnsemblGeneIds (GRCh38): ENSG00000092067
EnsemblGeneIds (GRCh37): ENSG00000092067
OMIM: 600749, Gene2Phenotype
CEBPE is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than three unrelated families and functional data.
Created: 24 Jul 2021, 8:30 a.m. | Last Modified: 24 Jul 2021, 8:30 a.m.
Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Specific granule deficiency, MIM# 245480

Publications

Created: 24 Jul 2021, 8:30 a.m.
Last Modified: 24 Jul 2021, 8:30 a.m.
Panel version: 0.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Specific granule deficiency, MIM# 245480
OMIM
600749
Clinvar variants
Variants in CEBPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cebpe has been classified as Green List (High Evidence).

24 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480

24 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480

24 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CEBPE were changed from to Specific granule deficiency, MIM# 245480

24 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEBPE were set to

24 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CEBPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEBPE was added gene: CEBPE was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CEBPE was set to Unknown